ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6025C>G (p.Leu2009Val)

dbSNP: rs1970273640
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001373223 SCV001569928 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2020-07-08 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 2009 of the CACNA1H protein (p.Leu2009Val). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with CACNA1H-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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